REFERENCES
1. Brown R. Management of central and peripheral nervous system tumors in patients with neurofibromatosis. Curr Oncol Rep. 2023;25:1409-17.
2. Lalvani S, Brown RM. Neurofibromatosis type 1: optimizing management with a multidisciplinary approach. J Multidiscip Healthc. 2024;17:1803-17.
3. Ortonne N, Wolkenstein P, Blakeley JO, et al. Cutaneous neurofibromas: current clinical and pathologic issues. Neurology. 2018;91:S5-S13.
4. Page PZ, Page GP, Ecosse E, Korf BR, Leplege A, Wolkenstein P. Impact of neurofibromatosis 1 on quality of life: a cross-sectional study of 176 American cases. Am J Med Genet A. 2006;140:1893-8.
5. Wolkenstein P, Zeller J, Revuz J, Ecosse E, Leplège A. Quality-of-life impairment in neurofibromatosis type 1: a cross-sectional study of 128 cases. Arch Dermatol. 2001;137:1421-5.
6. Wang J, Fu J, Zhou Y, Gao D, Qing J, Yang G. Global research trends in cutaneous neurofibromas: a bibliometric analysis from 2003 to 2022. Skin Res Technol. 2024;30:e13595.
7. Friedrich RE, Holstein AF, Middendorff R, Davidoff MS. Vascular wall cells contribute to tumourigenesis in cutaneous neurofibromas of patients with neurofibromatosis type 1. A comparative histological, ultrastructural and immunohistochemical study. Anticancer Res. 2012;32:2139-58.
8. Kallionpää RA, Ahramo K, Martikkala E, et al. Mast cells in human cutaneous neurofibromas: density, subtypes, and association with clinical features in neurofibromatosis 1. Dermatology. 2022;238:329-39.
9. Kallionpää RA, Peltonen S, Le KM, et al. Characterization of immune cell populations of cutaneous neurofibromas in neurofibromatosis 1. Lab Invest. 2024;104:100285.
10. Church C, Fay CX, Kriukov E, et al. snRNA-seq of human cutaneous neurofibromas before and after selumetinib treatment implicates role of altered Schwann cell states, inter-cellular signaling, and extracellular matrix in treatment response. Acta Neuropathol Commun. 2024;12:102.
11. McLean DT, Meudt JJ, Lopez Rivera LD, et al. Single-cell RNA sequencing of neurofibromas reveals a tumor microenvironment favorable for neural regeneration and immune suppression in a neurofibromatosis type 1 porcine model. Front Oncol. 2023;13:1253659.
12. Nagrani NS, Bhawan J. Histopathological variants of cutaneous neurofibroma: a compendious review. Dermatopathology. 2022;10:1-19.
13. Peltonen J, Penttinen R, Larjava H, Aho HJ. Collagens in neurofibromas and neurofibroma cell cultures. Ann N Y Acad Sci. 1986;486:260-70.
14. Brosseau JP, Sathe AA, Wang Y, et al. Human cutaneous neurofibroma matrisome revealed by single-cell RNA sequencing. Acta Neuropathol Commun. 2021;9:11.
15. Jiang C, McKay RM, Le LQ. Tumorigenesis in neurofibromatosis type 1: role of the microenvironment. Oncogene. 2021;40:5781-7.
16. Harigai R, Sakai S, Nobusue H, et al. Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells. Sci Rep. 2018;8:6069.
17. Chen P, Cescon M, Megighian A, Bonaldo P. Collagen VI regulates peripheral nerve myelination and function. FASEB J. 2014;28:1145-56.
18. Chen P, Cescon M, Zuccolotto G, et al. Collagen VI regulates peripheral nerve regeneration by modulating macrophage recruitment and polarization. Acta Neuropathol. 2015;129:97-113.
19. Cescon M, Gregorio I, Eiber N, et al. Collagen VI is required for the structural and functional integrity of the neuromuscular junction. Acta Neuropathol. 2018;136:483-99.
21. Cescon M, Rampazzo E, Bresolin S, et al. Collagen VI sustains cell stemness and chemotherapy resistance in glioblastoma. Cell Mol Life Sci. 2023;80:233.
22. Jiang C, Kumar A, Yu Z, et al. Basement membrane proteins in extracellular matrix characterize NF1 neurofibroma development and response to MEK inhibitor. J Clin Invest. 2023:133.
23. Williams L, Layton T, Yang N, Feldmann M, Nanchahal J. Collagen VI as a driver and disease biomarker in human fibrosis. FEBS J. 2022;289:3603-29.
24. Wang WN, Koguchi-Yoshioka H, Nimura K, et al. Distinct transcriptional profiles in the different phenotypes of neurofibroma from the same subject with neurofibromatosis 1. J Invest Dermatol. 2024;144:133-141.e4.
25. Castagnaro S, Gambarotto L, Cescon M, Bonaldo P. Autophagy in the mesh of collagen VI. Matrix Biol. 2021;100-101:162-72.
26. Silver FH. The role of connections between cellular and tissue mechanical elements and the importance of applied energy in mechanotransduction in cancerous tissue. Biomolecules. 2025;15:457.
27. Lu P, Chen Z, Wu M, et al. Type I collagen extracellular matrix facilitates nerve regeneration via the construction of a favourable microenvironment. Burns Trauma. 2024;12:tkae049.
28. Li X, Shepard HM, Cowell JA, et al. Parallel accumulation of tumor hyaluronan, collagen, and other drivers of tumor progression. Clin Cancer Res. 2018;24:4798-807.
29. Rømer AMA, Thorseth ML, Madsen DH. Immune modulatory properties of collagen in cancer. Front Immunol. 2021;12:791453.
30. Henke E, Nandigama R, Ergün S. Extracellular matrix in the tumor microenvironment and its impact on cancer therapy. Front Mol Biosci. 2019;6:160.
31. Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales. Brain. 1988;111:1355-81.
32. Duong TA, Bastuji-Garin S, Valeyrie-Allanore L, Sbidian E, Ferkal S, Wolkenstein P. Evolving pattern with age of cutaneous signs in neurofibromatosis type 1: a cross-sectional study of 728 patients. Dermatology. 2011;222:269-73.
33. Cannon A, Chen MJ, Li P, et al. Cutaneous neurofibromas in neurofibromatosis type I: a quantitative natural history study. Orphanet J Rare Dis. 2018;13:31.
35. Geller M, Mezitis SG, Nunes FP, et al. Progesterone and estrogen receptors in neurofibromas of patients with NF1. Clin Med Pathol. 2008;1:93-7.
36. Fishbein L, Zhang X, Fisher LB, et al. In vitro studies of steroid hormones in neurofibromatosis 1 tumors and Schwann cells. Mol Carcinog. 2007;46:512-23.
37. Pennanen P, Peltonen S, Kallionpää RA, Peltonen J. The effect of estradiol, testosterone, and human chorionic gonadotropin on the proliferation of Schwann cells with NF1+/- or NF1-/- genotype derived from human cutaneous neurofibromas. Mol Cell Biochem. 2018;444:27-33.
38. Lammert M, Mautner VF, Kluwe L. Do hormonal contraceptives stimulate growth of neurofibromas? BMC Cancer. 2005;5:16.
39. Cannon A, Jarnagin K, Korf B, et al. Clinical trial design for cutaneous neurofibromas. Neurology. 2018;91:S31-7.
40. Zhu B, Zheng T, Wang W, et al. Genotype-phenotype correlations of neurofibromatosis type 1: a cross-sectional study from a large Chinese cohort. J Neurol. 2024;271:1893-900.
41. Kehrer-Sawatzki H, Kluwe L, Salamon J, et al. Clinical characterization of children and adolescents with NF1 microdeletions. Childs Nerv Syst. 2020;36:2297-310.
42. Pinna V, Lanari V, Daniele P, et al. p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. Eur J Hum Genet. 2015;23:1068-71.
43. Jiang C, McKay RM, Lee SY, et al. Cutaneous neurofibroma heterogeneity: factors that influence tumor burden in neurofibromatosis type 1. J Invest Dermatol. 2023;143:1369-77.
44. Upadhyaya M, Huson SM, Davies M, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. 2007;80:140-51.
45. Trevisson E, Morbidoni V, Forzan M, et al. The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas. Mol Genet Genomic Med. 2019;7:e616.
46. Lin MJ, Yao H, Vera K, et al. Cutaneous neurofibromas and quality of life in adults with neurofibromatosis type 1. JAMA Dermatol. 2024;160:1091-8.
47. Thomas L, Spurlock G, Eudall C, et al. Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. Eur J Hum Genet. 2012;20:411-9.
48. Emmerich D, Zemojtel T, Hecht J, et al. Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. Eur J Hum Genet. 2015;23:870-3.
49. Asai A, Karnan S, Ota A, et al. High-resolution 400K oligonucleotide array comparative genomic hybridization analysis of neurofibromatosis type 1-associated cutaneous neurofibromas. Gene. 2015;558:220-6.
50. Jacks T, Shih TS, Schmitt EM, Bronson RT, Bernards A, Weinberg RA. Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet. 1994;7:353-61.
51. Osum SH, Watson AL, Largaespada DA. Spontaneous and engineered large animal models of neurofibromatosis type 1. Int J Mol Sci. 2021;22:1954.
52. Isakson SH, Rizzardi AE, Coutts AW, et al. Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. Commun Biol. 2018;1:158.
53. White KA, Swier VJ, Cain JT, et al. A porcine model of neurofibromatosis type 1 that mimics the human disease. JCI Insight. 2018;3:120402.
54. Mo J, Anastasaki C, Chen Z, et al. Humanized neurofibroma model from induced pluripotent stem cells delineates tumor pathogenesis and developmental origins. J Clin Invest. 2021;131:139807.
55. Mazuelas H, Magallón-Lorenz M, Fernández-Rodríguez J, et al. Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromas. Cell Rep. 2022;38:110385.
56. Liao CP, Pradhan S, Chen Z, Patel AJ, Booker RC, Le LQ. The role of nerve microenvironment for neurofibroma development. Oncotarget. 2016;7:61500-8.
57. Wu J, Williams JP, Rizvi TA, et al. Plexiform and dermal neurofibromas and pigmentation are caused by Nf1 loss in desert hedgehog-expressing cells. Cancer Cell. 2008;13:105-16.
58. Le LQ, Shipman T, Burns DK, Parada LF. Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas. Cell Stem Cell. 2009;4:453-63.
59. Radomska KJ, Coulpier F, Gresset A, et al. Cellular origin, tumor progression, and pathogenic mechanisms of cutaneous neurofibromas revealed by mice with Nf1 knockout in boundary cap cells. Cancer Discov. 2019;9:130-47.
60. Brosseau JP, Pichard DC, Legius EH, et al. The biology of cutaneous neurofibromas: consensus recommendations for setting research priorities. Neurology. 2018;91:S14-20.
61. Ge LL, Xing MY, Zhang HB, Wang ZC. Neurofibroma development in neurofibromatosis type 1: insights from cellular origin and schwann cell lineage development. Cancers. 2022;14:4513.
62. Zheng H, Chang L, Patel N, et al. Induction of abnormal proliferation by nonmyelinating schwann cells triggers neurofibroma formation. Cancer Cell. 2008;13:117-28.
63. Parrinello S, Noon LA, Harrisingh MC, et al. NF1 loss disrupts Schwann cell-axonal interactions: a novel role for semaphorin 4F. Genes Dev. 2008;22:3335-48.
64. Chamseddin BH, Hernandez L, Solorzano D, Vega J, Le LQ. Robust surgical approach for cutaneous neurofibroma in neurofibromatosis type 1. JCI Insight. 2019;5:128881.
65. Wozniak B, Bove T, Zawada T, Calik J. Treatment of cutaneous neurofibromas in patients with neurofibromatosis type 1. Case Rep Dermatol. 2023;15:194-201.
66. Yoshida Y, Sato N, Furumura M, Nakayama J. Treatment of pigmented lesions of neurofibromatosis 1 with intense pulsed-radio frequency in combination with topical application of vitamin D3 ointment. J Dermatol. 2007;34:227-30.
67. Quirk B, Olasz E, Kumar S, Basel D, Whelan H. Photodynamic therapy for benign cutaneous neurofibromas using aminolevulinic acid topical application and 633 nm red light illumination. Photobiomodul Photomed Laser Surg. 2021;39:411-7.
68. Peltonen S, Jannic A, Wolkenstein P. Treatment of cutaneous neurofibromas with carbon dioxide laser: technique and patient experience. Eur J Med Genet. 2022;65:104386.
69. Chamseddin BH, Le LQ. Management of cutaneous neurofibroma: current therapy and future directions. Neurooncol Adv. 2020;2:i107-16.
70. Levine SM, Levine E, Taub PJ, Weinberg H. Electrosurgical excision technique for the treatment of multiple cutaneous lesions in neurofibromatosis type I. J Plast Reconstr Aesthet Surg. 2008;61:958-62.
71. Verma SK, Riccardi VM, Plotkin SR, et al. Considerations for development of therapies for cutaneous neurofibroma. Neurology. 2018;91:S21-30.
72. Sarin KY, Bradshaw M, O’Mara C, et al. Effect of NFX-179 MEK inhibitor on cutaneous neurofibromas in persons with neurofibromatosis type 1. Sci Adv. 2024;10:eadk4946.
73. Ly I, Romo CG, Gottesman S, et al. Target product profile for cutaneous neurofibromas: clinical trials to prevent, arrest, or regress cutaneous neurofibromas. J Invest Dermatol. 2023;143:1388-96.
74. Guiraud M, Bouroubi A, Beauchamp R, et al. Cutaneous neurofibromas: patients’ medical burden, current management and therapeutic expectations: results from an online European patient community survey. Orphanet J Rare Dis. 2019;14:286.
75. Passos J, Soares MP, Salgado D, et al. A single-center case study series assessing the effect of selumetinib use in patients with neurofibromatosis-related plexiform neurofibromas. Neurooncol Adv. 2024;6:vdae177.
76. Gross AM, Reid OH, Baldwin LA, et al. Treatment of cutaneous neurofibromas in neurofibromatosis type 1 with mek inhibitor selumetinib: a nonrandomized clinical trial. JAMA Dermatol. 2025;161:533-7.
77. Banerjee J, Allaway RJ, Taroni JN, et al. Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1. Genes. 2020;11:226.
78. Mazuelas H, Magallón-Lorenz M, Uriarte-Arrazola I, et al. Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas. JCI Insight. 2024:9.
79. In M, Richardson KC, Loewa A, Hedtrich S, Kaessmeyer S, Plendl J. Histological and functional comparisons of four anatomical regions of porcine skin with human abdominal skin. Anat Histol Embryol. 2019;48:207-17.
80. Liu Y, Chen JY, Shang HT, et al. Light microscopic, electron microscopic, and immunohistochemical comparison of Bama minipig (Sus scrofa domestica) and human skin. Comp Med. 2010;60:142-8.
